Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences

Tim H.M. Huang; Frank Greenberg; David H. Ledbetter

doi:10.1007/BF00201553

Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences

Tim H.M. Huang, Frank Greenberg, David H. Ledbetter

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11 Scopus citations

Abstract

We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.

Original language	English (US)
Pages (from-to)	619-620
Number of pages	2
Journal	Human Genetics
Volume	86
Issue number	6
DOIs	https://doi.org/10.1007/BF00201553
State	Published - Apr 1991
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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abstract = "We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.",

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AU - Ledbetter, David H.

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N2 - We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.

AB - We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.

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Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences

Abstract

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